Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

@article{Bejjani2000MultipleCM,
  title={Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.},
  author={Bassem A. Bejjani and David Stockton and Richard Alan Lewis and K. F. Tomey and David K. Dueker and Monzer H. Jabak and William F Astle and James R Lupski},
  journal={Human molecular genetics},
  year={2000},
  volume={9 3},
  pages={367-74}
}
Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the anterior chamber. Recently, we reported three distinct mutations in CYP1B1, the gene for cytochrome P4501B1, in 25 Saudi families segregating PCG. For this report, we analyzed 37 additional families and confirmed the initial finding of decreased penetrance. Mutations and intragenic single-nucleotide polymorphisms (SNPs) were also analyzed from direct sequencing of all… CONTINUE READING
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Congenital glaucoma

D. S. Walton
1998

[Molecular diagnosis of mutations responsible for recurrent and severe forms of primary congenital glaucoma].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti • 1998

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